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<!--
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UID=892389
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ConceptID=C4025831
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal peripheral nervous system morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892389</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal peripheral nervous system structure; disease of peripheral nervous system; disease or disorder of peripheral nervous system; disorder of peripheral nervous system; disorder of the peripheral nervous system; Peripheral nervous system disease; peripheral nervous system disease; peripheral nervous system disease or disorder; peripheral nervous system disorder; peripheral nervous system disorders; PNS (peripheral nervous system) diseases; PNS disease; PNS diseases</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000759">HP:0000759</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0003620" target="_blank">MONDO:0003620</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormal peripheral nervous system morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="matched_ds">Abnormal peripheral nervous system morphology</span><ul><li><span class="TLline"><a href="/medgen/344302" ref="tree=MeSH" title="MedGen record for Abnormal cranial nerve morphology">Abnormal cranial nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867073" ref="tree=MeSH" title="MedGen record for Abnorma vestibulocochlear nerve morphology">Abnorma vestibulocochlear nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1863863" ref="tree=MeSH" title="MedGen record for Vascular compression of the eighth cranial nerve">Vascular compression of the eighth cranial nerve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866871" ref="tree=MeSH" title="MedGen record for Abnormal fifth cranial nerve morphology">Abnormal fifth cranial nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892554" ref="tree=MeSH" title="MedGen record for Abnormality of infra-orbital nerve">Abnormality of infra-orbital nerve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868989" ref="tree=MeSH" title="MedGen record for Abnormal sixth cranial nerve morphology">Abnormal sixth cranial nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1864025" ref="tree=MeSH" title="MedGen record for Sixth cranial nerve hypoplasia">Sixth cranial nerve hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863428" ref="tree=MeSH" title="MedGen record for Abnormal third cranial nerve morphology">Abnormal third cranial nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1864255" ref="tree=MeSH" title="MedGen record for Third cranial nerve hypoplasia">Third cranial nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1864154" ref="tree=MeSH" title="MedGen record for Third cranial nerve thickening">Third cranial nerve thickening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866870" ref="tree=MeSH" title="MedGen record for Abnormality of the eleventh cranial nerve">Abnormality of the eleventh cranial nerve</a></span></li><li><span class="TLline"><a href="/medgen/141743" ref="tree=MeSH" title="MedGen record for Cranial nerve compression">Cranial nerve compression</a></span><ul><li><span class="TLline"><a href="/medgen/1863954" ref="tree=MeSH" title="MedGen record for Facial nerve compression">Facial nerve compression</a></span></li><li><span class="TLline"><a href="/medgen/870320" ref="tree=MeSH" title="MedGen record for Optic atrophy from cranial nerve compression">Optic atrophy from cranial nerve compression</a></span></li><li><span class="TLline"><a href="/medgen/78765" ref="tree=MeSH" title="MedGen record for Optic nerve compression">Optic nerve compression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870493" ref="tree=MeSH" title="MedGen record for Cranial nerve motor loss">Cranial nerve motor loss</a></span></li><li><span class="TLline"><a href="/medgen/1841585" ref="tree=MeSH" title="MedGen record for Hypoplastic trochlear nerve">Hypoplastic trochlear nerve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841528" ref="tree=MeSH" title="MedGen record for Abnormal peripheral nerve morphology by anatomical site">Abnormal peripheral nerve morphology by anatomical site</a></span><ul><li><span class="TLline"><a href="/medgen/893090" ref="tree=MeSH" title="MedGen record for Abnormal glossopharyngeal nerve morphology">Abnormal glossopharyngeal nerve morphology</a></span></li><li><span class="TLline"><a href="/medgen/893052" ref="tree=MeSH" title="MedGen record for Abnormal great auricular nerve morphology">Abnormal great auricular nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1815090" ref="tree=MeSH" title="MedGen record for Greater auricular nerve thickening">Greater auricular nerve thickening</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892801" ref="tree=MeSH" title="MedGen record for Abnormal lingual nerve morphology">Abnormal lingual nerve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866869" ref="tree=MeSH" title="MedGen record for Abnormality of the twelfth cranial nerve">Abnormality of the twelfth cranial nerve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893048" ref="tree=MeSH" title="MedGen record for Abnormality of inferior alveolar nerve">Abnormality of inferior alveolar nerve</a></span></li><li><span class="TLline"><a href="/medgen/1706390" ref="tree=MeSH" title="MedGen record for Sural nerve atrophy">Sural nerve atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871144" ref="tree=MeSH" title="MedGen record for Decreased size of nerve terminals">Decreased size of nerve terminals</a></span></li><li><span class="TLline"><a href="/medgen/356274" ref="tree=MeSH" title="MedGen record for Diffuse axonal swelling">Diffuse axonal swelling</a></span></li><li><span class="TLline"><a href="/medgen/871184" ref="tree=MeSH" title="MedGen record for Enhanced neurotoxicity of vincristine">Enhanced neurotoxicity of vincristine</a></span></li><li><span class="TLline"><a href="/medgen/390701" ref="tree=MeSH" title="MedGen record for Enlarged peripheral nerve">Enlarged peripheral nerve</a></span></li><li><span class="TLline"><a href="/medgen/322038" ref="tree=MeSH" title="MedGen record for Hypertrophic nerve changes">Hypertrophic nerve changes</a></span></li><li><span class="TLline"><a href="/medgen/1057425" ref="tree=MeSH" title="MedGen record for Increased peripheral nerve cross sectional area">Increased peripheral nerve cross sectional area</a></span></li><li><span class="TLline"><a href="/medgen/1863973" ref="tree=MeSH" title="MedGen record for Metachromatic intraneuronal lipid deposits">Metachromatic intraneuronal lipid deposits</a></span></li><li><span class="TLline"><a href="/medgen/1382316" ref="tree=MeSH" title="MedGen record for Minifascicle formation">Minifascicle formation</a></span></li><li><span class="TLline"><a href="/medgen/14344" ref="tree=MeSH" title="MedGen record for Neuritis">Neuritis</a></span><ul><li><span class="TLline"><a href="/medgen/113170" ref="tree=MeSH" title="MedGen record for Brachial plexus neuritis">Brachial plexus neuritis</a></span></li><li><span class="TLline"><a href="/medgen/46005" ref="tree=MeSH" title="MedGen record for Polyneuritis">Polyneuritis</a></span><ul><li><span class="TLline"><a href="/medgen/782514" ref="tree=MeSH" title="MedGen record for Acute infective polyneuritis">Acute infective polyneuritis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1841980" ref="tree=MeSH" title="MedGen record for Peripheral axon spheroid formation">Peripheral axon spheroid formation</a></span></li><li><span class="TLline"><a href="/medgen/871339" ref="tree=MeSH" title="MedGen record for Peripheral axonal degeneration">Peripheral axonal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/332464" ref="tree=MeSH" title="MedGen record for Axonal degeneration">Axonal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/368889" ref="tree=MeSH" title="MedGen record for Axonal degeneration/regeneration">Axonal degeneration/regeneration</a></span></li><li><span class="TLline"><a href="/medgen/316962" ref="tree=MeSH" title="MedGen record for Axonal loss">Axonal loss</a></span></li><li><span class="TLline"><a href="/medgen/340241" ref="tree=MeSH" title="MedGen record for Axonal regeneration">Axonal regeneration</a></span><ul><li><span class="TLline"><a href="/medgen/335897" ref="tree=MeSH" title="MedGen record for Clusters of axonal regeneration">Clusters of axonal regeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871146" ref="tree=MeSH" title="MedGen record for Peripheral axonal atrophy">Peripheral axonal atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841985" ref="tree=MeSH" title="MedGen record for Peripheral axonal distension">Peripheral axonal distension</a></span></li><li><span class="TLline"><a href="/medgen/343565" ref="tree=MeSH" title="MedGen record for Peripheral nerve compression">Peripheral nerve compression</a></span></li><li><span class="TLline"><a href="/medgen/1841731" ref="tree=MeSH" title="MedGen record for Peripheral nerve polyglucosan inclusion bodies">Peripheral nerve polyglucosan inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/1841878" ref="tree=MeSH" title="MedGen record for Reduced intraepidermal small nerve fiber density">Reduced intraepidermal small nerve fiber density</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_372186"><div><strong>Myofibrillar myopathy 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372186</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).\n\nThe signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.\n\nMyofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372186">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335168"><div><strong>X-linked distal spinal muscular atrophy type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335168</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335168">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356049"><div><strong>Pierpont syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356049</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356049">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372186" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierpont syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335168" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked distal spinal muscular atrophy type 3</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914902">Chronic inflammatory demyelinating polyradiculoneuropathy-Diagnostic pitfalls and treatment approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stino AM,
|
||
Naddaf E,
|
||
Dyck PJ,
|
||
Dyck PJB</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):157-169.
|
||
Epub 2020 Sep 11
|
||
doi: 10.1002/mus.27046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914902" target="_blank">32914902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24685669">2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">January CT,
|
||
Wann LS,
|
||
Alpert JS,
|
||
Calkins H,
|
||
Cigarroa JE,
|
||
Cleveland JC Jr,
|
||
Conti JB,
|
||
Ellinor PT,
|
||
Ezekowitz MD,
|
||
Field ME,
|
||
Murray KT,
|
||
Sacco RL,
|
||
Stevenson WG,
|
||
Tchou PJ,
|
||
Tracy CM,
|
||
Yancy CW;
|
||
American College of Cardiology/American Heart Association Task Force on Practice Guidelines</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2014 Dec 2;64(21):e1-76.
|
||
Epub 2014 Mar 28
|
||
doi: 10.1016/j.jacc.2014.03.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24685669" target="_blank">24685669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19679277">Central post-stroke pain: clinical characteristics, pathophysiology, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klit H,
|
||
Finnerup NB,
|
||
Jensen TS</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2009 Sep;8(9):857-68.
|
||
doi: 10.1016/S1474-4422(09)70176-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19679277" target="_blank">19679277</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20peripheral%20nervous%20system%20morphology)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (196)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28840850">Classification and Current Management of Inner Ear Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sennaroğlu L,
|
||
Bajin MD</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2017 Sep 29;34(5):397-411.
|
||
Epub 2017 Aug 25
|
||
doi: 10.4274/balkanmedj.2017.0367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28840850" target="_blank">28840850</a><a href="/pmc/articles/PMC5635626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27378455">Congenital optic nerve anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martín-Begué N,
|
||
Saint-Gerons M</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol</span>
|
||
2016 Dec;91(12):577-588.
|
||
Epub 2016 Jul 1
|
||
doi: 10.1016/j.oftal.2016.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27378455" target="_blank">27378455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20610192">Hirschsprung's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kenny SE,
|
||
Tam PK,
|
||
Garcia-Barcelo M</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2010 Aug;19(3):194-200.
|
||
doi: 10.1053/j.sempedsurg.2010.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20610192" target="_blank">20610192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11556684">Paraproteinemic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vital A</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2001 Oct;11(4):399-407.
|
||
doi: 10.1111/j.1750-3639.2001.tb00407.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11556684" target="_blank">11556684</a><a href="/pmc/articles/PMC8098264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2668494">Möbius and Möbius-like syndromes (TTV-OFM, OMLH).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller MT,
|
||
Ray V,
|
||
Owens P,
|
||
Chen F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1989 Jul-Aug;26(4):176-88.
|
||
doi: 10.3928/0191-3913-19890701-07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2668494" target="_blank">2668494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20peripheral%20nervous%20system%20morphology%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4076)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33229952">Congenital Opticmeningoceles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz AAV,
|
||
Akaishi PMS,
|
||
Bernardini F,
|
||
Chahud F</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2021 May-Jun 01;37(3):e109-e111.
|
||
doi: 10.1097/IOP.0000000000001864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33229952" target="_blank">33229952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27378455">Congenital optic nerve anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martín-Begué N,
|
||
Saint-Gerons M</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol</span>
|
||
2016 Dec;91(12):577-588.
|
||
Epub 2016 Jul 1
|
||
doi: 10.1016/j.oftal.2016.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27378455" target="_blank">27378455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25476172">Imaging of the temporal bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abele TA,
|
||
Wiggins RH 3rd</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
2015 Jan;53(1):15-36.
|
||
doi: 10.1016/j.rcl.2014.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25476172" target="_blank">25476172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23528997">The developmental etiology and pathogenesis of Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler Tjaden NE,
|
||
Trainor PA</span><br />
|
||
<span class="medgenPMjournal">Transl Res</span>
|
||
2013 Jul;162(1):1-15.
|
||
Epub 2013 Mar 22
|
||
doi: 10.1016/j.trsl.2013.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23528997" target="_blank">23528997</a><a href="/pmc/articles/PMC3691347" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14655165">Intestinal neuronal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puri P</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2003 Nov;12(4):259-64.
|
||
doi: 10.1053/j.sempedsurg.2003.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14655165" target="_blank">14655165</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20peripheral%20nervous%20system%20morphology%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6253)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38313837">The role of the autonomic nervous system in polycystic ovary syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yu Y,
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Zheng Z,
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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|
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<div class="nl"><a target="_blank" href="/pubmed/34205075">Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stavrou M,
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<div class="nl"><a target="_blank" href="/pubmed/31760656">Drug-Induced Demyelinating Neuropathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Niimi N,
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<div class="nl"><a target="_blank" href="/pubmed/4329269">Neuro-ophthalmology.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36116854">The Abducens Nerve: Anatomy and Pathology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lucio LL,
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<span class="bold">PMID: </span><a href="/pubmed/36116854" target="_blank">36116854</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gysler SM,
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<span class="medgenPMjournal">J Clin Invest</span>
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2021 Jun 1;131(11)
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<div class="nl"><a target="_blank" href="/pubmed/29561327">Congenital Achiasma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lecler A,
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<div class="nl"><a target="_blank" href="/pubmed/20621322">Tilted optic disks.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Witmer MT,
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/20621322" target="_blank">20621322</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17070491">Walker-Warburg Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khalaf SS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20peripheral%20nervous%20system%20morphology%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2513)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35943858">PTEN Immunohistochemistry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Terra SA,
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2022 May 1;147(5):577-583.
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<span class="bold">PMID: </span><a href="/pubmed/35943858" target="_blank">35943858</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33595607">Giant Papillary and Peripapillary Staphyloma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghassemi F,
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<div class="nl"><a target="_blank" href="/pubmed/27876591">Cystic Fibrosis and the Nervous System.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20peripheral%20nervous%20system%20morphology%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3414)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/34535379">Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rijckmans E,
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Stouffs K,
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Jansen AC,
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||
Brock S</span><br />
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2022 Mar;37:155-164.
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||
Epub 2021 Aug 31
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doi: 10.1016/j.ejpn.2021.08.006.
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||
<span class="bold">PMID: </span><a href="/pubmed/34535379" target="_blank">34535379</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31408750">Duplicated Vagus Nerve in Adolescence: Case Report and Review of Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labuschagne JJ,
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Hammer N</span><br />
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<span class="medgenPMjournal">World Neurosurg</span>
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2019 Nov;131:180-185.
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Epub 2019 Aug 10
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doi: 10.1016/j.wneu.2019.08.014.
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<span class="bold">PMID: </span><a href="/pubmed/31408750" target="_blank">31408750</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/31087139">Anatomical variation in the right non-recurrent laryngeal nerve reported from studies using pre-operative arterial imaging.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Polednak AP</span><br />
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<span class="medgenPMjournal">Surg Radiol Anat</span>
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||
2019 Aug;41(8):943-949.
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Epub 2019 May 13
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doi: 10.1007/s00276-019-02252-5.
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||
<span class="bold">PMID: </span><a href="/pubmed/31087139" target="_blank">31087139</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29587171">Impact of carpal tunnel syndrome on ulnar nerve at wrist: Systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ginanneschi F,
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Mondelli M,
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Cioncoloni D,
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Rossi A</span><br />
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<span class="medgenPMjournal">J Electromyogr Kinesiol</span>
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2018 Jun;40:32-38.
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||
Epub 2018 Mar 20
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||
doi: 10.1016/j.jelekin.2018.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29587171" target="_blank">29587171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25415709">Accuracy of MRI in diagnosing peripheral nerve disease: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwee RM,
|
||
Chhabra A,
|
||
Wang KC,
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Marker DR,
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<span class="medgenPMjournal">AJR Am J Roentgenol</span>
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<span class="bold">PMID: </span><a href="/pubmed/25415709" target="_blank">25415709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20peripheral%20nervous%20system%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div></div>
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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